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Results for lactase deficiency, congenital: Medline ( 48 ) | Full Text ( 4 ) | Grants ( 0 )

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Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.

Gastroenterology 2009,Jun,01;136(7):2295-303; (PMID: 19208354)
BACKGROUND & AIMS: Congenital lactase deficiency (CLD) is a cause of disaccharide intolerance and malabsorption characterized by watery diarrhea[...]

Infant formula.

Am Fam Physician 2009,Apr,01;79(7):565-70; (PMID: 19378873)
[...]There is insufficient evidence to recommend supplementation with docosahexaenoic acid or arachidonic acid. Soy formulas are indicated for congenital lactase deficiency and galactosemia, but are not recommended for colic because of insufficient evidence of benefit.[...]

[Lactose intolerance: pathophysiology, clinical symptoms, diagnosis and treatment]

Pol Merkur Lekarski 2009,Feb,01;26(152):148-52; (PMID: 19388523)
[...] and milk products intolerance symptoms are the most common alimentary tract disorders. Lactose intolerance is a result of lactase deficiency or lack of lactase and lactose malabsorption. Three types of lactase deficiency were distinguished: congenital, late-onset lactase deficiency and secondary lactase deficiency. Lactose intolerance means the appearance of clinical gastrointestinal symptoms[...]

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

BMC Gastroenterol 2009,Jan,01;9:8; (PMID: 19161632) [FULL TEXT AVAILABLE]
BACKGROUND: Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low [...]

[Congenital lactase deficiency--a more common disease than previously thought?]

Duodecim 2009,Jan,01;125(7):766-70; (PMID: 19432082)
Congenital lactase deficiency belongs to the Finnish Disease Heritage and is a recessively inherited diarrheal disease of the newborn, in which the activity of the [...]

Disorders of intestinal secretion and absorption.

Best Pract Res Clin Gastroenterol 2009,Jan,01;23(3):395-406; (PMID: 19505667)
[...]Disorders of intestinal absorption and secretion comprise a variety of different diseases, e.g. coeliac disease, lactase deficiency or Whipple's disease. In principle, impaired small intestinal function can occur with or without morphological alterations of the [...]

Molecular genetics of human lactase deficiencies.

Ann Med 2009,Jan,01;41(8):568-75; (PMID: 19639477)
Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population.[...]

Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia.

Nutr Rev 2007,Feb,01;65(2):95-8; (PMID: 17345962)
[...]A limited fraction of the human adult population retains intestinal lactase-phlorizin hydrolase (LPH) activity during adulthood, and this is called the lactase persistence phenotype. However, 95% of all adults have adult-type hypolactasia (ATH) and have difficulty digesting milk sugar.[...]However, 95% of all adults have adult-type hypolactasia (ATH) and have difficulty digesting milk sugar. Rarely, some infants are born with an inability to digest lactase (congenital lactase deficiency or CLD) due to low levels of LPH activity, which results in severe clinical consequences if not properly diagnosed and treated by [...]

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.

J Appl Genet 2007,Jan,01;48(3):277-80; (PMID: 17666782)
[...] had to wait about 17 years for an accurate diagnosis and appropriate therapy. Lactase deficiency, congenital cataract of the right eye, and osteoporosis were observed. Episodes of drowsiness were caused by intake of high-protein food.[...]

[Clinical studies of pediatric malabsorption syndromes]

Fukuoka Igaku Zasshi 2006,Nov,01;97(11):322-50; (PMID: 17228786)
[...], two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH[...], the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both.[...] therapy, these changes were decreased. The lesions were postulated as the secondary result of zinc deficiency. 8. A 12-year-old girl presented with hypogammaglobulinemia, recurrent infections, chronic diarrhea and intestinal[...]
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